Andrea Superti Furga

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Superti Furga

Publications in SciGraph latest 50 shown

  • 2019-03 Progressive pseudorheumatoid dysplasia: a rare childhood disease in RHEUMATOLOGY INTERNATIONAL
  • 2019-03 Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual in JOURNAL OF BONE AND MINERAL METABOLISM
  • 2017-12 X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 in NEUROGENETICS
  • 2017-06-12 CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome in NATURE COMMUNICATIONS
  • 2017-05 Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two in PEDIATRIC RHEUMATOLOGY
  • 2017-04 Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections in GENETICS IN MEDICINE
  • 2017 The Bone in Genetic and Metabolic Diseases: A Practical Approach in INHERITED METABOLIC DISEASES
  • 2016-12 Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach in SCIENTIFIC REPORTS
  • 2016-10 Natural history and life-threatening complications in Myhre syndrome and review of the literature in EUROPEAN JOURNAL OF PEDIATRICS
  • 2015-12 Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia in SCIENTIFIC REPORTS
  • 2015-09 Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome in SCIENTIFIC REPORTS
  • 2014-12 Multiple sulfatase deficiency with neonatal manifestation in ITALIAN JOURNAL OF PEDIATRICS
  • 2014-01 Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation in THE INDIAN JOURNAL OF PEDIATRICS
  • 2013-12 Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-12 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient in ITALIAN JOURNAL OF PEDIATRICS
  • 2012-11 Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients in SKELETAL RADIOLOGY
  • 2012-01 Propionic acidemia: neonatal versus selective metabolic screening in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-01 Mutation analysis in 54 propionic acidemia patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-05 Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia in HUMAN GENETICS
  • 2011-02 Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity in NATURE GENETICS
  • 2010-12 Current themes in molecular pediatrics: molecular medicine and its applications in ITALIAN JOURNAL OF PEDIATRICS
  • 2010-12 Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report in BMC MUSCULOSKELETAL DISORDERS
  • 2010-07 TRPV4-pathy, a novel channelopathy affecting diverse systems in JOURNAL OF HUMAN GENETICS
  • 2009-12 Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2009-09 Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis in EUROPEAN JOURNAL OF PEDIATRICS
  • 2009-09 Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-09 Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue in EUROPEAN JOURNAL OF PEDIATRICS
  • 2009-08 Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria in EUROPEAN JOURNAL OF PEDIATRICS
  • 2009-08 A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients in SKELETAL RADIOLOGY
  • 2009-07 Drug dosing error with drops—severe clinical course of codeine intoxication in twins in EUROPEAN JOURNAL OF PEDIATRICS
  • 2008-12 Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2008-05 4 innovative pädiatrische Curricula in MONATSSCHRIFT KINDERHEILKUNDE
  • 2008-03 Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations in NATURE GENETICS
  • 2007-11 Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human in NATURE MEDICINE
  • 2007-07 L1CAM mutation in a boy with hydrocephalus and duplex kidneys in PEDIATRIC NEPHROLOGY
  • 2007-06 Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemia in EUROPEAN JOURNAL OF PEDIATRICS
  • 2007-02 Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007 Angeborene Entwicklungsstörungen des Skeletts in PÄDIATRIE
  • 2007 Genetische Bindegewebskrankheiten in PÄDIATRIE
  • 2005-08 Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene in EUROPEAN JOURNAL OF PEDIATRICS
  • 2005-04 Mucolipidosis II presenting as severe neonatal hyperparathyroidism in EUROPEAN JOURNAL OF PEDIATRICS
  • 2004-04 Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis in NATURE GENETICS
  • 2004-01 Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy in RHEUMATOLOGY INTERNATIONAL
  • 2003-12 Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution in EUROPEAN JOURNAL OF PEDIATRICS
  • 2003-10 Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation in EUROPEAN JOURNAL OF PEDIATRICS
  • 2003-08 Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification in NATURE GENETICS
  • 2003-07 An 11-month-old boy with psychomotor regression and auto-aggressive behaviour in EUROPEAN JOURNAL OF PEDIATRICS
  • 2002-03 Hyperammonaemic encephalopathy in a 13-year-old boy in EUROPEAN JOURNAL OF PEDIATRICS
  • 2001-12 New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias in PEDIATRIC RADIOLOGY
  • 2001-01 Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome in HUMAN GENETICS
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